Quote:
Originally Posted by Honey
ooooo you forgot TERT. That one has been bugging me on your signature. So I am cheating and asking for the answer.  |
Hi Honey!
TERT is telomerase reverse transcriptase. It, along with TERC (telomerase RNA component) and DKC1 (dyskerin) make up the enzyme telomerase, which tacks some nonsense DNA onto the ends often chromosomes in your bone marrow stem cells whenever they divide to reproduce (and make blood cells).
When chromosomes divide, they don't necessarily do it cleanly, and the ends get shortened with each division. So, the chromosomes have some nonsense at their tip ends called telomeres. That way, the stuff that gets shortened isn't important genetic information.
Most cells can only divide a fixed number of times before the telomeres get too short and the cell stops dividing. But bone marrow stems cells have to keep on dividing over again. So, the telomerase enzyme adds back some more telomere after every division, so the blood factory can keep cranking out cells. Even with all that, your bone marrow telomeres get shorter as you age.
I have a mutation in TERT that messes up this whole telomere repair system. When measured a couple of years ago my white cell telomeres (they measure the white cells because here are no chromosomes in platelets or red cells) were the length of a normal 95 year old. Some other folks around here have a TERC mutation, and, like me, are participating in an NIH clinical trial of Danazol, a synthetic testosterone that gives the telomerase system a kick in the behind.
I was having transfusions every two weeks, but have now gone more than a yer with no transfusions.
This whole telomere, TERT, TERC thing is a very rare cause of a rare disease (some folks in the trial are diagnosed with MDS and some with AA). You can read some more explanation in
this thread.
Take care!
Greg